X-linked intellectual disability due to GRIA3 mutations
A rare genetic X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy short stature autistic features and behavioral problems such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly prominent supraorbital ridges and deep set eyes. Additional variable manifestations include malposition of feet asthenic habitus hyporeflexia bowel occlusions hydronephrosis ren arcuatus delayed motor development and disturbed sleep-wake cycle.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
X-linked intellectual disability due to GRIA3 mutations?
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CureGRIN Foundation is dedicated to improving the lives of people around the world with GRI Disorder, and their families, through research, education and connectivity. We work closely with scientists and the medical community to drive patient-centered research that will lead to treatments and cures.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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